Product Details

SNP ID
rs147915585
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:13826204 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATAGGTACGTCACCATCTTCTAC[A/G]CCCTGCGCTACCACCACATCATGAC
Phenotype
MIM: 600042
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MC5R PubMed Links

Gene Details

Gene
MC5R
Gene Name
melanocortin 5 receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005913.2 661 Missense Mutation ACC,GCC T147A NP_005904.1

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